In late 2020, amidst a global pandemic and with the guidance of my GYN, I decided to do a hereditary cancer genetic panel that would test for over seventy known genetic mutations linked to all different hereditary cancers. My own mother is a breast cancer survivor. She was diagnosed at 40 years young but we were always told that because she did not have a BRCA mutation that the cancer wasn’t genetic. Being the daughter of a scientist and a survivor, this didn’t seem like the complete picture.

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What causes fragile X syndrome? Fragile X syndrome is caused by changes in the FMR1 gene found on the X chromosome. Typically, this gene produces a protein which is essential for proper brain development. In Fragile X syndrome, a part of the FMR1 gene is repeated too many times, resulting in reduced protein production that disrupts the normal brain function and leads to the characteristic symptoms of Fragile X. The number of repeats within the FMR1 gene impacts the severity of the condition.

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One of the most common questions we hear at JScreen is some version of, “Are you sure that I don’t need to get my blood drawn?” The answer is yes! The DNA that comes from blood is the same as the DNA from saliva, so the accuracy of both types of tests is the same.It used to be that if you wanted genetic testing, you would have to make an appointment at the genetic counselor, potentially wait for an available appointment, and end up with a blood draw. But at-home testing via saliva has been a game-changer. Here are the benefits:

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My hope is that by sharing our story it will stress the importance of genetic testing and awareness and to spare others the same grief and pain that we have endured. By doing so, this will help create an understanding of the importance of genetic testing coupled with genetic counseling, research, and education.

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Twenty-six years ago, our father was diagnosed with Gaucher disease. A “simple” broken shoulder turned into years of getting the wrong treatments and one false diagnosis after another until one doctor encouraged further genetic testing. It was at that point, Gaucher disease became a huge part of our family.

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